Rhodopsin mutations in autosomal dominant retinitis pigmentosa

  title={Rhodopsin mutations in autosomal dominant retinitis pigmentosa},
  author={M. al-Maghtheh and C. Gregory and C. Inglehearn and A. Hardcastle and S. Bhattacharya},
  journal={Human Mutation},
  • M. al-Maghtheh, C. Gregory, +2 authors S. Bhattacharya
  • Published 1993
  • Biology, Medicine
  • Human Mutation
  • Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X‐linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor‐specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual… CONTINUE READING
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